Stephen R. Brooks

RichPathR provides R functions for gene set enrichment analysis and visualization using EnrichR, facilitating exploratory analysis of gene lists in biological contexts.

This study identifies de novo LYN variants causing constitutive Lyn kinase activation, leading to neutrophilic vasculitis and liver fibrosis, and shows therapeutic response to Src kinase inhibitors.

The paper performs RNA-seq analysis of mdx mouse muscles to identify a DMD disease signature and shows its relevance to early human DMD.